Variant report

Variant	rs6576977
Chromosome Location	chr2:97264457-97264458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97262402..97265097-chr2:97301270..97304055,2	K562	blood:
2	chr2:97262402..97266191-chr2:97301270..97305062,4	K562	blood:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1047634	1.00[EUR][1000 genomes]
rs11886360	1.00[EUR][1000 genomes]
rs11892821	1.00[EUR][1000 genomes]
rs2314649	1.00[EUR][1000 genomes]
rs34013660	1.00[EUR][1000 genomes]
rs6576985	1.00[EUR][1000 genomes]
rs6576988	1.00[EUR][1000 genomes]
rs6707008	1.00[EUR][1000 genomes]
rs6713046	1.00[EUR][1000 genomes]
rs6746421	1.00[EUR][1000 genomes]
rs6748214	1.00[EUR][1000 genomes]
rs6748234	1.00[EUR][1000 genomes]
rs7569178	1.00[EUR][1000 genomes]
rs7570831	1.00[EUR][1000 genomes]
rs7580104	1.00[EUR][1000 genomes]
rs7587149	1.00[EUR][1000 genomes]
rs7593340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv819818	chr2:97261164-97266533	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97248400-97283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97248800-97266200	Weak transcription	Small Intestine	intestine
3	chr2:97253200-97266200	Weak transcription	Right Atrium	heart
4	chr2:97254800-97271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97255000-97267800	Strong transcription	A549	lung
6	chr2:97256000-97264600	Strong transcription	Fetal Intestine Small	intestine
7	chr2:97256200-97282400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:97256600-97274200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:97256600-97283800	Strong transcription	Placenta	Placenta
10	chr2:97256600-97287000	Strong transcription	Dnd41	blood
11	chr2:97256800-97267000	Strong transcription	Liver	Liver
12	chr2:97256800-97274200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:97257000-97267200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:97257000-97279600	Strong transcription	Fetal Lung	lung
15	chr2:97257200-97264600	Strong transcription	Fetal Stomach	stomach
16	chr2:97257400-97264600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:97257400-97264800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:97257400-97267400	Strong transcription	Fetal Intestine Large	intestine
19	chr2:97257400-97272200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:97257400-97272400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:97257400-97273600	Strong transcription	Left Ventricle	heart
22	chr2:97257400-97274000	Strong transcription	Osteobl	bone
23	chr2:97257400-97274200	Strong transcription	HSMMtube	muscle
24	chr2:97257400-97279600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:97257400-97279600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:97257400-97279600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:97257400-97279800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:97257400-97279800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr2:97257400-97280000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:97257400-97280800	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:97257400-97282400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:97257600-97267600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:97257600-97280800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:97257600-97286400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:97257800-97264600	Strong transcription	HMEC	breast
36	chr2:97257800-97267200	Strong transcription	GM12878-XiMat	blood
37	chr2:97257800-97271800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:97257800-97273000	Strong transcription	Adipose Nuclei	Adipose
39	chr2:97257800-97279400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:97257800-97279400	Strong transcription	Brain Germinal Matrix	brain
41	chr2:97257800-97279600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:97257800-97286800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:97258000-97279400	Strong transcription	Ovary	ovary
44	chr2:97258000-97279400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:97258000-97283200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:97258200-97267600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:97258200-97283200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:97258200-97286400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:97258400-97272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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